10312[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 58893	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1	ACY3, AIP +98 more	Copy number loss	See cases	GPathogenic
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 305774	NM_002496.4(NDUFS8):c.*14C>T	NDUFS8, TCIRG1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency +4 more	GBenign/Likely benign
Select item 305776	NM_002496.4(NDUFS8):c.*40A>G	NDUFS8, TCIRG1	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis +4 more	GConflicting classifications of pathogenicity
Select item 305778	NM_006019.3(TCIRG1):c.-128G>C	TCIRG1	Single nucleotide variant	Osteopetrosis	GUncertain significance
Select item 882144	NM_006019.4(TCIRG1):c.-53G>A	TCIRG1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 3240576	NM_006019.4(TCIRG1):c.-5+1G>C	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 553850	NM_006019.4(TCIRG1):c.-5+1G>T	TCIRG1	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 1	GPathogenic/Likely pathogenic
Select item 1334770	NM_006019.4(TCIRG1):c.-5+5G>A	TCIRG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 235762	NM_006019.4(TCIRG1):c.-5+560dup	TCIRG1	Duplication (intron variant)	not provided	GBenign
Select item 305779	NM_006019.4(TCIRG1):c.-4-3C>T	TCIRG1	Single nucleotide variant (intron variant)	Autosomal recessive osteopetrosis 1	GUncertain significance
Select item 1626993	NM_006019.4(TCIRG1):c.6C>A (p.Gly2=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2154147	NM_006019.4(TCIRG1):c.8C>T (p.Ser3Phe)	TCIRG1 (S3F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1705720	NM_006019.4(TCIRG1):c.16del (p.Arg6fs)	TCIRG1 (R6fs)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1	GLikely pathogenic
Select item 990507	NM_006019.4(TCIRG1):c.16C>T (p.Arg6Trp)	TCIRG1 (R6W)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GUncertain significance
Select item 2159281	NM_006019.4(TCIRG1):c.17G>C (p.Arg6Pro)	TCIRG1 (R6P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 990508	NM_006019.4(TCIRG1):c.17G>A (p.Arg6Gln)	TCIRG1 (R6Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 882145	NM_006019.4(TCIRG1):c.21C>T (p.Ser7=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1537334	NM_006019.4(TCIRG1):c.24G>A (p.Glu8=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1123451	NM_006019.4(TCIRG1):c.27G>A (p.Glu9=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1449535	NM_006019.4(TCIRG1):c.28G>T (p.Val10Leu)	TCIRG1 (V10L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2033717	NM_006019.4(TCIRG1):c.34C>T (p.Leu12=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1140924	NM_006019.4(TCIRG1):c.36G>C (p.Leu12=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1094873	NM_006019.4(TCIRG1):c.36G>A (p.Leu12=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2413838	NM_006019.4(TCIRG1):c.37G>A (p.Val13Ile)	TCIRG1 (V13I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2030552	NM_006019.4(TCIRG1):c.40C>T (p.Gln14Ter)	TCIRG1 (Q14*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2804108	NM_006019.4(TCIRG1):c.42G>A (p.Gln14=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2861120	NM_006019.4(TCIRG1):c.45C>T (p.Leu15=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1466731	NM_006019.4(TCIRG1):c.50T>C (p.Leu17Pro)	TCIRG1 (L17P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1131029	NM_006019.4(TCIRG1):c.54C>T (p.Pro18=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1345537	NM_006019.4(TCIRG1):c.55A>G (p.Thr19Ala)	TCIRG1 (T19A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2919955	NM_006019.4(TCIRG1):c.57A>C (p.Thr19=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1991524	NM_006019.4(TCIRG1):c.57A>G (p.Thr19=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3175298	NM_006019.4(TCIRG1):c.58G>A (p.Ala20Thr)	TCIRG1 (A20T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 990509	NM_006019.4(TCIRG1):c.59C>T (p.Ala20Val)	TCIRG1 (A20V)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 195257	NM_006019.4(TCIRG1):c.60G>A (p.Ala20=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1439784	NM_006019.4(TCIRG1):c.71C>T (p.Thr24Ile)	TCIRG1 (T24I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2984706	NM_006019.4(TCIRG1):c.72C>G (p.Thr24=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1151462	NM_006019.4(TCIRG1):c.75C>T (p.Cys25=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2090858	NM_006019.4(TCIRG1):c.77dup (p.Ser27fs)	TCIRG1 (S27fs)	Duplication (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2162498	NM_006019.4(TCIRG1):c.82C>G (p.Arg28Gly)	TCIRG1 (R28G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 305780	NM_006019.4(TCIRG1):c.82C>T (p.Arg28Trp)	TCIRG1 (R28W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2073265	NM_006019.4(TCIRG1):c.83G>A (p.Arg28Gln)	TCIRG1 (R28Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2026289	NM_006019.4(TCIRG1):c.84G>T (p.Arg28=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1114319	NM_006019.4(TCIRG1):c.84G>A (p.Arg28=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1092780	NM_006019.4(TCIRG1):c.87G>A (p.Leu29=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2087435	NM_006019.4(TCIRG1):c.90C>A (p.Gly30=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 284040	NM_006019.4(TCIRG1):c.90C>T (p.Gly30=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 1440215	NM_006019.4(TCIRG1):c.91G>A (p.Glu31Lys)	TCIRG1 (E31K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 990510	NM_006019.4(TCIRG1):c.97G>A (p.Gly33Ser)	TCIRG1 (G33S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1435254	NM_006019.4(TCIRG1):c.98G>T (p.Gly33Val)	TCIRG1 (G33V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 971145	NM_006019.4(TCIRG1):c.100_101delinsA (p.Leu34fs)	TCIRG1 (L34fs)	Indel (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1575777	NM_006019.4(TCIRG1):c.102C>T (p.Leu34=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2162361	NM_006019.4(TCIRG1):c.103G>A (p.Val35Met)	TCIRG1 (V35M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1383397	NM_006019.4(TCIRG1):c.106G>A (p.Glu36Lys)	TCIRG1 (E36K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1426595	NM_006019.4(TCIRG1):c.108G>C (p.Glu36Asp)	TCIRG1 (E36D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2160280	NM_006019.4(TCIRG1):c.112A>G (p.Arg38Gly)	TCIRG1 (R38G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1121231	NM_006019.4(TCIRG1):c.112A>C (p.Arg38=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 551945	NM_006019.4(TCIRG1):c.117+1G>A	TCIRG1	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1334165	NM_006019.4(TCIRG1):c.117+4A>C	TCIRG1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 5462	NM_006019.4(TCIRG1):c.117+4A>T	TCIRG1	Single nucleotide variant (genic upstream transcript variant +1 more)	Autosomal recessive osteopetrosis 1 +3 more	GPathogenic/Likely pathogenic
Select item 1492052	NM_006019.4(TCIRG1):c.117+5G>A	TCIRG1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely pathogenic
Select item 1097158	NM_006019.4(TCIRG1):c.117+7T>G	TCIRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015757	NM_006019.4(TCIRG1):c.117+9G>C	TCIRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657799	NM_006019.4(TCIRG1):c.117+10G>T	TCIRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1528077	NM_006019.4(TCIRG1):c.117+10G>A	TCIRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958184	NM_006019.4(TCIRG1):c.117+12G>T	TCIRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901102	NM_006019.4(TCIRG1):c.117+19C>T	TCIRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884384	NM_006019.4(TCIRG1):c.117+20G>A	TCIRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2117727	NM_006019.4(TCIRG1):c.117+20G>C	TCIRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273796	NM_006019.4(TCIRG1):c.117+83T>C	TCIRG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2787868	NM_006019.4(TCIRG1):c.118-19C>T	TCIRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2149045	NM_006019.4(TCIRG1):c.118-16C>T	TCIRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2739702	NM_006019.4(TCIRG1):c.118-15G>A	TCIRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2414007	NM_006019.4(TCIRG1):c.118-15G>T	TCIRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2111053	NM_006019.4(TCIRG1):c.118-8A>C	TCIRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2103579	NM_006019.4(TCIRG1):c.118-6C>A	TCIRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 739903	NM_006019.4(TCIRG1):c.118-6C>T	TCIRG1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1140108	NM_006019.4(TCIRG1):c.118-4A>G	TCIRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799395	NM_006019.4(TCIRG1):c.118-2A>T	TCIRG1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2735679	NM_006019.4(TCIRG1):c.118-1G>A	TCIRG1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1534624	NM_006019.4(TCIRG1):c.120C>T (p.Leu40=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 305781	NM_006019.4(TCIRG1):c.123C>T (p.Asn41=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2195769	NM_006019.4(TCIRG1):c.128C>T (p.Ser43Leu)	TCIRG1 (S43L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1089838	NM_006019.4(TCIRG1):c.129G>A (p.Ser43=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1150295	NM_006019.4(TCIRG1):c.135C>T (p.Ser45=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2148988	NM_006019.4(TCIRG1):c.136G>A (p.Ala46Thr)	TCIRG1 (A46T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2414157	NM_006019.4(TCIRG1):c.137C>G (p.Ala46Gly)	TCIRG1 (A46G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1533734	NM_006019.4(TCIRG1):c.138C>T (p.Ala46=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1626207	NM_006019.4(TCIRG1):c.141C>T (p.Phe47=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 551224	NM_006019.4(TCIRG1):c.148C>T (p.Arg50Cys)	TCIRG1 (R50C)	Single nucleotide variant (5 prime UTR variant +1 more)	TCIRG1-related disorder +2 more	GUncertain significance
Select item 2631458	NM_006019.4(TCIRG1):c.149G>T (p.Arg50Leu)	TCIRG1 (R50L)	Single nucleotide variant (5 prime UTR variant +1 more)	TCIRG1-related disorder	GUncertain significance
Select item 2144672	NM_006019.4(TCIRG1):c.149G>A (p.Arg50His)	TCIRG1 (R50H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3366018	NM_006019.4(TCIRG1):c.152T>C (p.Phe51Ser)	TCIRG1 (F51S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 740810	NM_006019.4(TCIRG1):c.154G>C (p.Val52Leu)	TCIRG1 (V52L)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive osteopetrosis 1 +1 more	GBenign
Select item 2827156	NM_006019.4(TCIRG1):c.156G>C (p.Val52=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2111518	NM_006019.4(TCIRG1):c.159T>A (p.Val53=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1951238	NM_006019.4(TCIRG1):c.162_196+139del	TCIRG1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2052584	NM_006019.4(TCIRG1):c.165T>C (p.Val55=)	TCIRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

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